Yann-jang Chen
Renai Branch
Taipei, TNQ, Taiwan
Taipei, TNQ, Taiwan
Last Updated: 09/26/2026
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Found 37 publications
Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort.
Journal: Children (Basel, Switzerland)
Published: June 18, 2026
Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.
Journal: American journal of human genetics
Published: November 07, 2025
Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism.
Journal: Journal of the Endocrine Society
Published: September 30, 2025
Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review.
Journal: Current genomics
Published: August 25, 2024
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.
Journal: Molecular genetics and metabolism reports
Published: June 17, 2024
Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.
Journal: Orphanet journal of rare diseases
Published: January 19, 2024
A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions.
Journal: Diagnostics (Basel, Switzerland)
Published: June 18, 2022
Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies.
Journal: Journal of clinical medicine
Published: May 13, 2022
KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review.
Journal: Pediatrics and neonatology
Published: November 26, 2021
Attitudes toward Pursuing Genetic Testing among Parents of Children with Autism Spectrum Disorder in Taiwan: A Qualitative Investigation.
Journal: International journal of environmental research and public health
Published: October 15, 2021
Universal Detection of Mia Antigen and Frequencies of Glycophorin Hybrids among Blood Donors in Taiwan by Human Monoclonal Antibodies against Mia (MNS7), Mur (MNS10), and MUT (MNS35) Antigens.
Journal: Diagnostics (Basel, Switzerland)
Published: April 03, 2021
The efficacy of ethnic specific blood groups genotyping for routine donor investigation and rare donor identification in Taiwan.
Journal: Vox sanguinis
Published: July 22, 2020
Last Updated: 09/26/2026